Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.R176W
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MSX1

NM_002448.3:p.R176W

Associated Papers

Novel MSX1 Gene Variants in Chinese Children with Non-Syndromic Tooth Agenesis: A Clinical and Genetic Analysis.

Ding T et al.

Children (basel, Switzerland), 2024

39767847 (PubMed )
Supplement: children-11-01418-s001.zip › Supplement_Table_S1.xlsx › Sheet1

Orodental malformations associated with human MSX1 sequence variants.

Wang YL et al.

Journal of the American Dental Association (1939), 2024

Characterization of novel MSX1 variants causally associated with non-syndromic oligodontia in Chinese families.

Zhao Y et al.

Molecular Genetics & Genomic Medicine, 2024

38069551 (PubMed )
Supplement: MGG3-12-e2334-s002.xls › Sheet1

MSX1 involved selective tooth agenesis and abnormal labial frenum, pedigree, and retrospective study.

Zhu Y et al.

Oral Diseases, 2023

Two novel mutations in MSX1 causing oligodontia.

Yang L et al.

Plos One, 2020

31914153 (PubMed )
Supplement: pone.0227287.s007.docx

Patterns of Dental Agenesis Highlight the Nature of the Causative Mutated Genes.

Fournier BP et al.

Journal of Dental Research, 2018

29879364 (PubMed )
Supplement: ds_10.1177_0022034518777460.pdf

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia.

Bonczek O et al.

Plos One, 2018

Novel nonsense mutation in MSX1 causes tooth agenesis with cleft lip in a Chinese family.

Liang J et al.

European Journal of Oral Sciences, 2012

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Bergendal B et al.

American Journal of Medical Genetics. Part A, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."